GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.

@article{Hsu2013GATA2HC,
  title={GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.},
  author={Amy P Hsu and Kirby D. Johnson and E Liana Falcone and Rajendran Sanalkumar and L. Aguilar S{\'a}nchez and Dennis Durand Hickstein and Jennifer Margarita Cuellar-Rodr{\'i}guez and Jacob E. Lemieux and Christa S. Zerbe and Emery H. Bresnick and Steven M Holland},
  journal={Blood},
  year={2013},
  volume={121 19},
  pages={3830-7, S1-7}
}
Previous reports of GATA2 mutations have focused on the coding region of the gene or full gene deletions. We recently identified 2 patients with novel insertion/deletion mutations predicted to result in mRNA nonsense-mediated decay, suggesting haploinsufficiency as the mechanism of GATA2 deficient disease. We therefore screened patients without identified exonic lesions for mutations within conserved noncoding and intronic regions. We discovered 1 patient with an intronic deletion mutation, 4… CONTINUE READING